ClinVar Miner

List of variants studied for Usher syndrome by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.140059894_140070834del
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)
NM_002109.6(HARS1):c.1194+4G>A rs370189312
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864
NM_002109.6(HARS1):c.1311+4T>C
NM_002109.6(HARS1):c.1312-8C>T rs772505507
NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560
NM_002109.6(HARS1):c.39T>G (p.Leu13=)
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
NM_002109.6(HARS1):c.622C>T (p.Leu208=)
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
NM_002109.6(HARS1):c.729+3A>G rs938453967
NM_002109.6(HARS1):c.72G>A (p.Gln24=) rs148516171
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.903C>T (p.Asp301=)
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.